Canonical Allele Identifier: CA399599969

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40693039T>A (hg19) ; chr17:g.42541021T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541021T>A , CM000679.2:g.42541021T>A	GRCh38
NC_000017.10:g.40693039T>A , CM000679.1:g.40693039T>A	GRCh37
NC_000017.9:g.37946565T>A	NCBI36
NG_011552.1:g.10089T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.836T>A MANE Select	ENSP00000225927.1:p.Phe279Tyr
ENST00000225927.6:c.836T>A	ENSP00000225927.1:p.Phe279Tyr
ENST00000586516.5:c.438T>A
ENST00000591587.1:c.360-2007T>A	ENSP00000467836.1:n.360-2007T>A
NM_000263.3:c.836T>A	NP_000254.2:p.Phe279Tyr
XM_006721920.2:c.23-18T>A	XP_006721983.1:n.23-18T>A
XM_011524840.1:c.23-2007T>A	XP_011523142.1:n.23-2007T>A
XM_017024687.1:c.23-18T>A	XP_016880176.1:n.23-18T>A
XM_024450771.1:c.893T>A	XP_024306539.1:p.Phe298Tyr
XM_024450772.1:c.23-2007T>A	XP_024306540.1:n.23-2007T>A
NM_000263.4:c.836T>A MANE Select	NP_000254.2:p.Phe279Tyr